Canonical Allele Identifier: CA116510
Gene: HEXA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3927
dbSNP Id: rs121907973

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72351215T>G , CM000677.2:g.72351215T>G GRCh38
NC_000015.9:g.72643556T>G , CM000677.1:g.72643556T>G GRCh37
NC_000015.8:g.70430610T>G NCBI36
NG_009017.1:g.29965A>C
NG_009017.2:g.29965A>C

Transcript Alleles

HGVS Amino-acid change
NM_000520.4:c.590A>C VV NP_000511.2:p.Lys197Thr
NM_000520.5:c.590A>C VV
NM_001318825.1:c.623A>C VV NP_001305754.1:p.Lys208Thr
NR_134869.1:n.1091A>C
ENST00000268097.9:c.590A>C ENSP00000268097.5:p.Lys197Thr
ENST00000379915.4:c.412+4344A>C ENSP00000478716.1:p.=
ENST00000563762.5:n.523A>C ENSP00000456346.1:p.=
ENST00000566304.5:c.623A>C ENSP00000455114.1:p.Lys208Thr
ENST00000566672.5:c.432A>C ENSP00000457037.1:p.Ter144Tyr
ENST00000567027.5:n.462A>C
ENST00000567159.5:c.590A>C ENSP00000456489.1:p.Lys197Thr
ENST00000567411.5:c.*111A>C ENSP00000455545.1:p.=
ENST00000568260.1:n.591A>C
ENST00000568777.5:n.5994A>C
ENST00000569410.5:c.590A>C ENSP00000457125.1:p.Lys197Thr
ENST00000569509.5:n.437A>C